Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Involuntary movements (HP:0004305)

Parent Node:
Tremor (HP:0001337)

..Starting node
..Action tremor (HP:0002345)

Term ID:

2345

Name:

Action tremor

Synonym:

Ataxic tremor

Definition:

A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.

Comments:

Reference:

HP:0002345

Genes and Diseases:

Child Nodes:

........

Postural tremor (HP:0002174)

................... HP:0007351 Upper limb postural tremor

........

Vocal tremor (HP:0012477)

........

Isometric tremor (HP:0030185)

........

Kinetic tremor (HP:0030186)

................... HP:0002080 Intention tremor

........

Titubation (HP:0030187)

................... HP:0002599 Head titubation
................... HP:0030147 Truncal titubation

Sister Nodes:

Resting tremor (HP:0002322)

Rubral tremor (HP:0030665)

Tremor by anatomical site (HP:0030188)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002345	HP:0002345	Action tremor	0	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0002345	Action tremor	0	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0002345	Action tremor	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0002345	Action tremor	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0002345	Action tremor	0	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0002345	Action tremor	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0002345	Action tremor	0	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0002345	Action tremor	0	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0002174	Postural tremor	1	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0030187	Titubation	1	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0030186	Kinetic tremor	1	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0012477	Vocal tremor	1	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0030185	Isometric tremor	1	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0030186	Kinetic tremor	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0030187	Titubation	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0030185	Isometric tremor	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0012477	Vocal tremor	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0002174	Postural tremor	1	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0030186	Kinetic tremor	1	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0030187	Titubation	1	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0030185	Isometric tremor	1	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0012477	Vocal tremor	1	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0002174	Postural tremor	1	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0002174	Postural tremor	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0030186	Kinetic tremor	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0030187	Titubation	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0012477	Vocal tremor	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0030185	Isometric tremor	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0002174	Postural tremor	1	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0030186	Kinetic tremor	1	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0030187	Titubation	1	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0012477	Vocal tremor	1	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0030185	Isometric tremor	1	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0030186	Kinetic tremor	1	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0030187	Titubation	1	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0030185	Isometric tremor	1	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0012477	Vocal tremor	1	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0002174	Postural tremor	1	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0030186	Kinetic tremor	1	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0030187	Titubation	1	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0030185	Isometric tremor	1	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0012477	Vocal tremor	1	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0002174	Postural tremor	1	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0002174	Postural tremor	1	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0030187	Titubation	1	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0030186	Kinetic tremor	1	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0012477	Vocal tremor	1	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0030185	Isometric tremor	1	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0030147	Truncal titubation	2	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0002599	Head titubation	2	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0002080	Intention tremor	2	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0007351	Upper limb postural tremor	2	ATN1 CL E G H	1822	101				ORPHA	1	113	3033	607462
HP:0002345	HP:0007351	Upper limb postural tremor	2	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0030147	Truncal titubation	2	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0002080	Intention tremor	2	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0002599	Head titubation	2	ATP6AP2 CL E G H	10159	300423	Mental retardation, X-linked, syndromic, Hedera type	300423	C1845543	OMIM	1	303	18305	300556
HP:0002345	HP:0007351	Upper limb postural tremor	2	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0030147	Truncal titubation	2	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0002080	Intention tremor	2	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0002599	Head titubation	2	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0002345	HP:0030147	Truncal titubation	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0002599	Head titubation	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0002080	Intention tremor	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0007351	Upper limb postural tremor	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	558	17646	610661
HP:0002345	HP:0030147	Truncal titubation	2	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0002080	Intention tremor	2	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0002599	Head titubation	2	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0007351	Upper limb postural tremor	2	PPP2R2B CL E G H	5521	604326	Spinocerebellar ataxia 12	604326	C1858501	OMIM	1	44	9305	604325
HP:0002345	HP:0007351	Upper limb postural tremor	2	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0030147	Truncal titubation	2	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0002080	Intention tremor	2	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0002599	Head titubation	2	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002345	HP:0007351	Upper limb postural tremor	2	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0030147	Truncal titubation	2	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0002080	Intention tremor	2	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0002599	Head titubation	2	SLC9A1 CL E G H	6548	616291	Lichtenstein-knorr syndrome	616291	C4225383	OMIM	1	66	11071	107310
HP:0002345	HP:0030147	Truncal titubation	2	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0002599	Head titubation	2	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0002080	Intention tremor	2	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HP:0002345	HP:0007351	Upper limb postural tremor	2	UROC1 CL E G H	131669	210128				ORPHA	1	80	26444	613012
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002345	HP:0002345	Action tremor	0	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0002345	Action tremor	0	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0002345	Action tremor	0	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0030186	Kinetic tremor	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0030187	Titubation	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0030185	Isometric tremor	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0012477	Vocal tremor	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0002174	Postural tremor	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0030186	Kinetic tremor	1	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0030187	Titubation	1	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0030185	Isometric tremor	1	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0012477	Vocal tremor	1	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0002174	Postural tremor	1	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0002174	Postural tremor	1	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0030187	Titubation	1	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0030186	Kinetic tremor	1	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0012477	Vocal tremor	1	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0030185	Isometric tremor	1	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0007351	Upper limb postural tremor	2	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0030147	Truncal titubation	2	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0002080	Intention tremor	2	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0002599	Head titubation	2	DNAJC19 CL E G H	131118	66634				ORPHA	0	111	30528	608977
HP:0002345	HP:0007351	Upper limb postural tremor	2	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0030147	Truncal titubation	2	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0002080	Intention tremor	2	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0002599	Head titubation	2	POLG CL E G H	5428	254886				ORPHA	0	1917	9179	174763
HP:0002345	HP:0030147	Truncal titubation	2	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0002080	Intention tremor	2	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0002599	Head titubation	2	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250
HP:0002345	HP:0007351	Upper limb postural tremor	2	TK2 CL E G H	7084	254886				ORPHA	0	356	11831	188250

Genes (119) :ABCB7 ABHD12 AFG3L2 AKT1 ALDH18A1 ANO10 ANO3 ARSA ATCAY ATN1 ATP13A2 ATP2B3 ATP6 ATP6AP2 ATXN1 ATXN10 ATXN2 BRAT1 BSCL2 CACNA1A CACNA1G CAMTA1 CCDC88C COL6A3 COQ2 COX1 COX3 CSTB CTDP1 CWF19L1 CYTB DNAJC19 ELOVL4 EPRS FAM126A FBXO7 FGF14 FLVCR1 FMR1 FUS FXN GCH1 GJB1 GJC2 GSS IFRD1 ITM2B ITPR1 JPH3 KCNC3 KCND3 KCNJ10 KIF1C MAG MAOA MFN2 MPZ MRE11 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 NGLY1 NIPA1 NKX6-2 NOP56 OPA3 PARK7 PEX10 PIK3CA PIK3R5 PLA2G6 PLP1 PMP22 PNPLA6 POLG POLR3A POLR3B PPP1R15B PPP2R2B PRICKLE1 PRKRA PSAP PTEN QRICH1 RARS REEP2 RNU12 SACS SCARB2 SCP2 SCYL1 SETX SLC30A10 SLC6A17 SLC9A1 SNCA SPTBN2 STUB1 TBP TENM4 TGM6 TH TK2 TMEM106B TMEM240 TMEM70 TPP1 TUBB4A UCHL1 UFC1 UROC1 VAPB VLDLR VWA3B XPNPEP3

Diseases (130) :101 300423 66634 606438 615273 254886 604326 309854 616291 210128 101109 447757 447760 420485 314632 104 535000 98755 98756 183090 100998 616411 98933 227510 609307 300623 614782 98808 128230 98771 206700 606658 98768 607346 397946 459056 300615 99947 100988 67036 606324 64753 447896 607694 616817 98762 210571 612067 401849 254900 616269 412057 616736 101150 607454 284324 609270 608627 613159 301310 612674 615109 284289 613728 309271 309263 94122 601238 314978 302500 98761 618056 98758 458803 314647 423275 616053 464440 308 48431 453521 133190 617951 610532 171695 88628 93256 95 1175 608804 613206 266130 117300 98769 208513 117360 612780 611302 180800 251347 527497 276198 614871 615108 610217 312080 215470 264090 614381 158350 617982 438114 616140 512260 98 613724 466794 352403 600224 615386 607136 276193 613908 617964 614052 98805 615491 618076 224050 616948

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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